Establishing Newborn Screening for SCID in the USA; Experience in California.

Puck, Jennifer M; Gennery, Andrew R

Puck, Jennifer M; Gennery, Andrew R.

Afiliación

Puck JM; Department of Pediatrics, School of Medicine, University of California San Francisco, UCSF Benioff Children's Hospital, San Francisco, CA 94143, USA.
Gennery AR; Children's Bone Marrow Transplant Unit, Translational and Clinical Research Institute, Newcastle University, Great North Children's Hospital, Newcastle upon Tyne NE1 4LP, UK.

Int J Neonatal Screen ; 7(4)2021 Oct 31.

Article en En | MEDLINE | ID: mdl-34842619

RESUMEN

Newborn screening for severe combined immunodeficiency (SCID) has developed from the realization that infants affected with SCID require prompt diagnosis and treatment to avoid fatal infectious complications. Screening DNA from infant dried blood spots for T-cell receptor excision circles (TRECs), byproducts of normal antigen-receptor gene rearrangement, has proven to be a reliable method to identify infants with SCID and other serious T lymphocyte defects before the onset of serious infections. The experience of the SCID newborn screening program in California after screening over 3 million infants demonstrates the effectiveness of this measure.

Palabras clave

T-cell lymphopenia; T-cell receptor excision circle (TREC); primary immunodeficiency; severe combined immunodeficiency (SCID)

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Screening_studies Idioma: En Revista: Int J Neonatal Screen Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Suiza

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